title: Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
abstract: Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2. A deletion syndrome 16p11.2 is well established and is characterized by intellectual disability, speech delay, and autism. PKD/IC, however, is extremely rare in this syndrome. We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.
authors.affiliation: Institut für Humangenetik, Justus-Liebig-Universität Gießen, Giessen, Germany, axel.weber@humangenetik.med.uni-giessen.de.
authors.forename: Axel
authors.initials: A
authors.lastname: Weber
authors.forename: Angelika
authors.initials: A
authors.lastname: Köhler
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
authors.forename: Bernd
authors.initials: B
authors.lastname: Neubauer
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
mesh_terms: D001321:Autistic Disorder / Q000150:complications / Q000235:genetics*; D002648:Child; D002819:Chorea / Q000209:etiology / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004421:Dystonia; D020936:Epilepsy, Benign Neonatal / Q000209:etiology / Q000235:genetics*; D060045:Genes, Modifier; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human